List of variants reported as pathogenic for Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	rs62508698	0.00009
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	rs62516141	0.00003
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter)	rs777006911	0.00001
NM_058004.4(PI4KA):c.2575-1G>A	rs775166339	0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)	rs1351749039	0.00001
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn)	rs747119727	0.00001
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro)	rs1490645147
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs)	rs747391554
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter)	rs144933467
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter)	rs2147287553
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr)	rs1929601378
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu)	rs2147171210
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs)	rs1419816068
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs)	rs139598272

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.